Genomics in Rare Disease
Find your specialty!
Specialty-specific Resources
We are in the process of developing a series of pages to support healthcare professionals working within various specialties. This list is being regularly updated so do check again soon if your specialty is not listed. We have also listed some resources below that you may find helpful.
Why is genomics relevant to me?
Genomic testing has the potential to transform families’ lives. As well as providing patients with an explanation for their features, a genetic diagnosis can help healthcare professionals to know how best to care for them.
A genomic test result may also enable families to connect with others in a similar situation, and provide parents with an understanding of their chances of having another child with the same condition
Genomics is relevant to healthcare professionals from all specialties. We are here to support you. Check out the links and resources below!
How Genomic Testing helped Kirsty
Kirsty’s mum has kindly shared her story to illustrate the ways in which genomic testing has helped their family. Read Kirsty’s story here.
If you would like to read some of our other patients’ stories, visit our webpage to browse our collection.
Frequently Asked Questions
Visit our webpage for step-by-step instructions, videos and infographics to help you order the most appropriate genomic test for your patient.
Join a Community of Practice
We host several Genomic Communities of Practice (CoPs). Each group has regular online meetings packed with education and case discussions, supporting all healthcare professionals to develop their understanding of genomics and become more confident at ordering and interpreting genomic tests. The CoPs are open to doctors, nurses and other healthcare professionals across the South East region, helping to build a network of expertise and support.
Become a Nursing Genomic Ambassador
Are you a nurse interested in learning more about genomics? Why not join our Genomic Ambassador network?
Attend our Events
We host regular online educational sessions. Browse upcoming and past events using the buttons at the bottom of this page, or sign up to receive our newsletter to be the first to receive updates and news!
Explore the Genomics Education Programme
The Genomics Education Programme has developed a wide selection of resources to support healthcare professionals to learn more about genomics. Visit their website to choose from online courses, short videos and articles. You can even consider signing up for MSc Modules in Genomic Medicine.
The Genomics Education Programme has also developed GeNotes; Genomic Notes for clinicians. the resource is divided into two sections:
- In the Clinic resources: Focused on the point of patient care, these short scenarios look at when to consider genomic testing and what you need to do.
- Knowledge Hub: An encyclopaedia of resources, designed to support your understanding of genomics in medicine.
Explaining genomics can be challenging, especially when using an interpreter or if a patient has learning difficulties. The Genomics Education Programme has developed a range of visual communication aids that clinicians can use to help their patients understand genomic concepts. There is a wide range of aids available:
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Chromosome deletions and microdeletions
- Chromosome duplications and microduplications
- Chromosome inversions
- De novo variants
- Exclusion testing (coming soon)
- Genes, chromosomes and DNA
- Invasive prenatal genetic testing (CVS and amniocentesis)
- Mitochondrial inheritance
- Mosaicism
- Penetrance and expressivity
- Preimplantation genetic testing (PGT)
- Reciprocal chromosome translocations
- Ring chromosomes
- Robertsonian chromosome translocations
- Variants of uncertain significance (VUS)
- X-linked recessive inheritance
Visit our webpage to learn about the different organisations available to support families affected by genetic conditions. There is also support available for patients who have a suspected genetic condition but currently remain undiagnosed.
Genomic tests commissioned by the NHS are listed in the National Genomic Test Directory. Each test has specific eligibility criteria, which are also outlined in the directory.
Our ‘Order or find a test‘ page helps you to search the genomic tests available, identify their eligibility criteria and access the order forms.
‘Be Part of Research’ is a free service that makes it easy for patients to find and take part in health research across the UK. Type in the health conditions you’re interested in and the website will match you to suitable studies, and send you information on how to take part.
National Lunch & Learn Series for Nurses & Midwives:
The NHS Genomic Medicine Service also hosts a monthly online Lunch and Learn webinar for all nurses and midwives who want to gain a better understanding of the relevance of genomics for their patients. Everyone’s welcome!
Genomic Ambassadors Network for Nurses & Midwives:
Are you a nurse interested in learning more about Genomics? Join our Genomic Ambassadors Network for Nurses & Midwives.
We have a friendly network of Nurses and Midwives who help champion and spread the benefits of genomics within their Trust. We work with them, and their Chief Nurses & Directors of Midwifery, to support education and training in genomics.
We meet online on a quarterly basis. All ambassadors have access to learning, research, networking and leadership opportunities, involvement in transformation projects and writing groups for peer-reviewed publications.
We would love you to sign up to our mailing list so that we can keep you up-to-date with genomics news and events.
Educational sessions
We deliver a range of educational sessions. Use the links below to sign up for up-coming events or watch recordings of previous sessions.
